Genopathy
Gene-Disorder Association · Article
Gene
BRIP1
BRCA1 Interacting DNA Helicase 1
Disorder
Hereditary Breast Carcinoma
First reported 2005
Supporting publications 119
Key publication · gene–disorder Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.Breast cancer research : BCR · 2005
Key publication · disorder Some characteristics of familial breast cancer.Cancer · 1971
Manually curated
Association Review

In brief

The association between BRIP1 (BRCA1 Interacting DNA Helicase 1) and Hereditary Breast Carcinoma is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 4,622
Symptoms 0
Compounds 0
Trials 0
Publications 119
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
BRIP1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Hereditary Breast Carcinoma

The disorder

13 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

4,622 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

119 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

11 references

Every source and publication cited across this dossier, as one numbered reference list.

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